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W Wuyts

Showing results (41-50 of 51) with videos related to

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American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.
Clinical Genetics|April 13, 2017
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family historyI Luyckx, D Proost, J M H Hendriks, et al.
Clinical Genetics|February 3, 2006
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnosticsL Rooms, E Reyniers, W Wuyts, et al.
Journal of Medical Genetics|February 12, 2002
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem diseaseW Balemans, N Patel, M Ebeling, et al.
American Journal of Human Genetics|April 16, 1998
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostosesW Wuyts, W Van Hul, K De Boulle, et al.
Clinical Genetics|September 13, 2006
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patientsL Vits, D Beckers, M Craen, et al.
Human Molecular Genetics|February 22, 2001
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)W Balemans, M Ebeling, N Patel, et al.
Clinical Genetics|March 19, 2010
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expressionE Wilch, H Azaiez, R A Fisher, et al.
Human Molecular Genetics|October 1, 1996
Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.
Journal of Medical Genetics|July 5, 2005
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentF J del Castillo, M Rodríguez-Ballesteros, A Alvarez, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.
Clinical Genetics|April 13, 2017
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family historyI Luyckx, D Proost, J M H Hendriks, et al.
Clinical Genetics|February 3, 2006
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnosticsL Rooms, E Reyniers, W Wuyts, et al.
Journal of Medical Genetics|February 12, 2002
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem diseaseW Balemans, N Patel, M Ebeling, et al.
American Journal of Human Genetics|April 16, 1998
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostosesW Wuyts, W Van Hul, K De Boulle, et al.
Clinical Genetics|September 13, 2006
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patientsL Vits, D Beckers, M Craen, et al.
Human Molecular Genetics|February 22, 2001
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)W Balemans, M Ebeling, N Patel, et al.
Clinical Genetics|March 19, 2010
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expressionE Wilch, H Azaiez, R A Fisher, et al.
Human Molecular Genetics|October 1, 1996
Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.
Journal of Medical Genetics|July 5, 2005
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentF J del Castillo, M Rodríguez-Ballesteros, A Alvarez, et al.
Pageof 6